المؤلفون: Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

المصدر: Genome medicine. 13(1)

مصطلحات موضوعية: CAUSES Study, SPARK Consortium, Cortex development, Gene families, Neurodevelopmental disorders, hnRNPs, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ff2t46d

المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, Herman, Kristin

المصدر: American Journal of Human Genetics. 104(5)

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m384791

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المؤلفون: Ghaloul-Gonzalez, Lina^{Aff1, Aff2}, Mohsen, Al-Walid^{Aff1, Aff2}, Karunanidhi, Anuradha, Seminotti, Bianca, Chong, Hey, Madan-Khetarpal, Suneeta^{Aff1, Aff2}, Sebastian, Jessica, Vockley, Catherine Walsh, Reyes-Múgica, Miguel, Vander Lugt, Mark T., Vockley, Jerry^{Aff1, Aff2}

المصدر: Scientific Reports. 9(1)

المؤلفون: Claire Hou, Ying-Chen, Evenson, Michael J., Corliss, Meagan M., Mahapatra, Lily, Aldawood, Ali, Carpentieri, David F., Chamlin, Sarah L., Kulungowski, Ann M., Madan-Khetarpal, Suneeta, Sebastian, Jessica, Pet, Mitchell A., Coughlin, Carrie C., Willing, Marcia C., Pearson, Gregory D., Setty, Bhuvana A., El-Haffaf, Zaki, Cottrell, Catherine E., Parikh, Bijal A., Krysiak, Kilannin, Schroeder, Molly C., Heusel, Jonathan W., Neidich, Julie A., Cao, Yang

المصدر: In Genetics in Medicine March 2023 25(3)

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المؤلفون: Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V.^{Aff1, Aff2}, Akdemir, Kadir Caner, Jhangiani, Shalini N.^{Aff1, Aff4}, Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A.^{Aff7, Aff8}, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Surti, Urvashi^{Aff7, Aff8, Aff10}, Abellar, Rosanna G., Bateman, David A., Wilson, Ashley L., Markham, Melinda H., Slamon, Jill, Santos-Simarro, Fernando^{Aff16, Aff17}, Palomares, María^{Aff16, Aff17}, Nevado, Julián^{Aff16, Aff17}, Lapunzina, Pablo^{Aff16, Aff17}, Chung, Brian Hon-Yin^{Aff18, Aff19}, Wong, Wai-Lap, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Kerem, Eitan, Reiter, Joel, Ambalavanan, Namasivayam^{Aff21, Aff22}, Anderson, Scott A., Kelly, David R., Shieh, Joseph, Rosenthal, Taryn C., Scheible, Kristin, Steiner, Laurie, Iqbal, M. Anwar, McKinnon, Margaret L., Hamilton, Sara Jane, Schlade-Bartusiak, Kamilla, English, Dawn, Hendson, Glenda, Roeder, Elizabeth R.^{Aff31, Aff32}, DeNapoli, Thomas S., Littlejohn, Rebecca Okashah, Wolff, Daynna J., Wagner, Carol L., Yeung, Alison, Francis, David, Fiorino, Elizabeth K., Edelman, Morris, Fox, Joyce, Hayes, Denise A., Janssens, Sandra, De Baere, Elfride, Menten, Björn, Loccufier, Anne, Vanwalleghem, Lieve, Moerman, Philippe, Sznajer, Yves, Lay, Amy S., Kussmann, Jennifer L., Chawla, Jasneek^{Aff48, Aff49}, Payton, Diane J.^{Aff50, Aff51}, Phillips, Gael E.^{Aff50, Aff51}, Brosens, Erwin^{Aff52, Aff53}, Tibboel, Dick, de Klein, Annelies, Maystadt, Isabelle, Fisher, Richard, Sebire, Neil, Male, Alison, Chopra, Maya, Pinner, Jason, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Lees, Melissa, Mead, Zoe, Quarrell, Oliver, Sayers, Richard, Owens, Martina, Shaw-Smith, Charles, Lioy, Janet, McKay, Eileen, de Leeuw, Nicole, Feenstra, Ilse, Spruijt, Liesbeth, Elmslie, Frances, Thiruchelvam, Timothy, Bacino, Carlos A.^{Aff1, Aff70}, Langston, Claire, Lupski, James R.^{Aff1, Aff4, Aff70, Aff72}, Sen, Partha, Popek, Edwina, Stankiewicz, Paweł^{Aff1, Aff2, Aff74}

المصدر: Human Genetics. 135(5):569-586

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